Genetic analysis of hereditary nonsyndromic oral clefts

Human Genome Research

Investigators

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Abstract

This project involves collection, in the Syrian Arab Republic, of clinical information and blood samples for genotyping from highly inbred families with many members affected with cleft lip and palate. Cooperation with Syrian local investigators and a month long visit to Syria by Dr. Wyszynski when he was an NIH postdoctoral fellow have resulted in collection of 29 large pedigrees suitable for linkage analysis by the technique of homozygosity mapping. Data collection is ongoing. A 10 cM homozygosity mapping genome scan has been completed with no positive results. A collaboration with Dr. Terri Beaty of JHUSPH has been initiated to increase power. Our samples from the first two large Syrian families were genotyped at CIDR along with Dr. Beaty's samples from several other sites and collaborative linkage analyses have been performed. Fine-mapping of several candidate regions implicated by suggestive lod scores has been performed and two papers presenting evidence for linkage to several candidate regions are in press. The new families have been genotyped for candidate regions and analyses of these data are ongoing in this fiscal year. Data collection is also ongoing in Syria. The most informative of the new families have been sent to the Center for Inherited Disease Research for genome wide scan genotyping, and these data will be analyzed in the next fiscal year.